• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

一例双胎输血综合征中伴有 Peters 异常的供受双胎不一致:病例报告。

A donor twin discordant with Peters anomaly in a twin-twin transfusion syndrome case: a case report.

机构信息

Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan, Taiwan.

Department of Obstetrics and Gynecology, Cathay General Hospital, Hsinchu, Taiwan.

出版信息

BMC Pregnancy Childbirth. 2020 Sep 23;20(1):558. doi: 10.1186/s12884-020-03269-0.

DOI:10.1186/s12884-020-03269-0
PMID:32967640
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7513296/
Abstract

BACKGROUND

Peters anomaly is a rare form of anterior segment ocular dysgenesis, the antenatal image of Peters anomaly had not been reported. We herein showcased a discordant finding of Peters anomaly in a monozygotic twin complicated with twin-twin transfusion syndrome (TTTS) and exhibited its antenatal sonographic images, CASE PRESENTATION: A 38-year-old gravida 2 para 1 pregnant woman visited our clinic at the gestational age of 18 weeks where TTTS stage III was diagnosed and the following laser therapy was done successfully. Ten days after the surgery, the follow-up ultrasound detected the opacity of both fetal eyeballs in the donor twin and thus congenital cataract was suspected initially. Then magnetic resonance imaging (MRI) examination was arranged at the gestational age of 23 weeks, and no central nervous system or other anomaly was found. At the 29 weeks of gestation, the opacity of both fetal eyeballs of the donor twin did not clear. The pregnancy resulted in cesarean section at the gestational age of 37 weeks indicated by malpresentation where two male live births were born. Examination under anesthesia was arranged for donor twin after delivery and Peters anomaly was diagnosed based on central corneal opacity with iridocorneal and corneolenticular adhesions.

CONCLUSIONS

The prenatal image of Peters anomaly may present as the opacity of the fetal eyeballs similar to congenital cataract. Some cases of the Peters anomaly had been reported with a genetic abnormality, but since our case presented discordant presentation in monozygotic twin pregnancy where both twins are supposed to share the same genetic make-up, therefore other factors that are epigenetic may be held accountable. Nevertheless, a genetic origin of the anomaly in our case cannot be excluded.

摘要

背景

Peters 异常是一种罕见的眼前段眼发育不良,产前 Peters 异常的图像尚未报道。我们在此展示了一例伴有双胎输血综合征(TTTS)的单卵双胞胎中 Peters 异常的不一致发现,并展示了其产前超声图像。

病例介绍

一位 38 岁的孕妇,妊娠 2 产 1,就诊于我们的诊所,妊娠 18 周时诊断为 TTTS Ⅲ期,并成功进行了激光治疗。手术后 10 天,随访超声发现供体双胞胎的两个胎儿眼球混浊,最初怀疑先天性白内障。然后在妊娠 23 周安排了磁共振成像(MRI)检查,未发现中枢神经系统或其他异常。在妊娠 29 周时,供体双胞胎的两个胎儿眼球混浊仍未消退。由于胎位不正,妊娠 37 周时行剖宫产,分娩出两个男性活婴。分娩后为供体双胞胎安排了全身麻醉检查,根据中央角膜混浊伴虹膜角膜和角膜晶状体粘连,诊断为 Peters 异常。

结论

Peters 异常的产前图像可能表现为与先天性白内障相似的胎儿眼球混浊。一些 Peters 异常的病例与遗传异常有关,但由于我们的病例是在单卵双胞胎妊娠中表现出不一致的表现,而这对双胞胎应该具有相同的遗传构成,因此可能与表观遗传因素有关。然而,我们病例中的异常的遗传起源不能排除。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6049/7513296/fb914ed7b724/12884_2020_3269_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6049/7513296/7d140f2c3669/12884_2020_3269_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6049/7513296/fb914ed7b724/12884_2020_3269_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6049/7513296/7d140f2c3669/12884_2020_3269_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6049/7513296/fb914ed7b724/12884_2020_3269_Fig2_HTML.jpg

相似文献

1
A donor twin discordant with Peters anomaly in a twin-twin transfusion syndrome case: a case report.一例双胎输血综合征中伴有 Peters 异常的供受双胎不一致:病例报告。
BMC Pregnancy Childbirth. 2020 Sep 23;20(1):558. doi: 10.1186/s12884-020-03269-0.
2
Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report.单体型罗伯逊易位罗氏易位三体性 21 型的同卵双胞胎不一致,核型为 46, XX, + 21, der (21;21) (q10; q10),在双胎输血综合征中,病例报告。
BMC Pregnancy Childbirth. 2021 Jan 30;21(1):101. doi: 10.1186/s12884-021-03587-x.
3
Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.双侧皮特氏异常、无虹膜和肾母细胞瘤(WAGR 综合征)在同卵双胞胎中发生。
Acta Paediatr. 2024 Jun;113(6):1420-1425. doi: 10.1111/apa.17160. Epub 2024 Feb 16.
4
Peters' anomaly with the fetal transfusion syndrome.
Am J Ophthalmol. 1976 Jul;82(1):55-8. doi: 10.1016/0002-9394(76)90664-4.
5
A novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review.彼得斯异常患者后弹力层的一种新的组织病理学发现:病例报告及文献综述
BMC Ophthalmol. 2015 Oct 23;15:139. doi: 10.1186/s12886-015-0131-y.
6
Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins.双胞胎染色体异常、先天性异常及输血综合征的检测
Ultrasound Obstet Gynecol. 2007 May;29(5):517-26. doi: 10.1002/uog.3918.
7
Vitreoretinal dysplasia masquerading as Peters' anomaly.伪装成彼得斯异常的玻璃体视网膜发育异常。
Eur J Ophthalmol. 2010 Jan-Feb;20(1):228-30. doi: 10.1177/112067211002000134.
8
Right ventricular outflow tract obstruction in complicated monochorionic twin pregnancy.复杂单绒毛膜双胎妊娠中的右心室流出道梗阻
Ultrasound Obstet Gynecol. 2017 Jun;49(6):737-743. doi: 10.1002/uog.16008. Epub 2017 May 2.
9
Unilateral Peters' anomaly complicated by a corneal tattoo.单侧彼得斯异常并发性角膜纹身。
Optom Vis Sci. 1998 Sep;75(9):635-9. doi: 10.1097/00006324-199809000-00017.
10
Correlation between age and corneal edema in pediatric patients with Peters anomaly.彼得斯异常患儿年龄与角膜水肿的相关性
Int Ophthalmol. 2019 Sep;39(9):2083-2088. doi: 10.1007/s10792-018-1048-2. Epub 2018 Dec 8.

引用本文的文献

1
The Ocular Neural Crest: Specification, Migration, and Then What?眼神经嵴:特化、迁移,然后呢?
Front Cell Dev Biol. 2020 Dec 23;8:595896. doi: 10.3389/fcell.2020.595896. eCollection 2020.

本文引用的文献

1
Predisposing factors and neonatal outcomes for twin-twin transfusion syndrome cases developing transient donor hydrops after fetoscopic laser coagulation: a case control study.先露因素和新生儿结局在接受经皮激光凝固术后发生短暂供者水肿的双胎输血综合征病例中的作用:一项病例对照研究。
BMC Pregnancy Childbirth. 2019 Mar 11;19(1):87. doi: 10.1186/s12884-019-2236-4.
2
Prenatal detection of Peters plus-like syndrome.彼得斯综合征样综合征的产前检测。
Turk J Obstet Gynecol. 2018 Dec;15(4):273-276. doi: 10.4274/tjod.45649. Epub 2019 Jan 9.
3
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia.
对精神分裂症不一致的同卵双胞胎进行全基因组测序表明,精神分裂症存在多种遗传风险因素。
J Genet Genomics. 2017 Jun 20;44(6):295-306. doi: 10.1016/j.jgg.2017.05.005. Epub 2017 Jun 8.
4
Whole exome sequence analysis of Peters anomaly.彼得斯异常的全外显子组序列分析
Hum Genet. 2014 Dec;133(12):1497-511. doi: 10.1007/s00439-014-1481-x. Epub 2014 Sep 3.
5
Concordance rates of birth defects after assisted reproductive technology among 17 258 Japanese twin pregnancies: a nationwide survey, 2004-2009.17258 例日本双胎妊娠辅助生殖技术后出生缺陷的一致性率:2004-2009 年全国调查。
J Epidemiol. 2013;23(1):63-9. doi: 10.2188/jea.je20120103. Epub 2012 Nov 3.
6
Peters anomaly: review of the literature.彼得斯异常:文献回顾。
Cornea. 2011 Aug;30(8):939-44. doi: 10.1097/ICO.0b013e31820156a9.
7
Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I.I型彼得斯异常患儿角膜移植术后的长期视觉预后
Am J Ophthalmol. 2007 Jul;144(1):104-108. doi: 10.1016/j.ajo.2007.03.058.
8
Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous.两例与彼得斯异常和永存原始玻璃体增生症相关的前葡萄肿的组织病理学检查。
Br J Ophthalmol. 2001 Dec;85(12):1421-5. doi: 10.1136/bjo.85.12.1421.
9
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.在同卵双胞胎中,红绿色觉缺陷不一致的个体存在不同的X染色体失活模式。
Am J Hum Genet. 1992 Aug;51(2):291-8.
10
Peters' anomaly with the fetal transfusion syndrome.
Am J Ophthalmol. 1976 Jul;82(1):55-8. doi: 10.1016/0002-9394(76)90664-4.